PHACE syndrome refers to the association of large segmental facial hemangiomas with 1 or more of the following anomalies: posterior fossa malformations, arterial anomalies, cardiac anomalies, and eye abnormalities. In this review, we present a newborn with a large segmental facial hemangioma and abnormal genesis of the cerebropetal arteries. Furthermore, we give an overview of the anomalies ass...

The application of cross sectional echocardiography and pulsed Doppler ultrasound to the management of symptomatic neonates with suspected congenital heart disease was studied in 96 consecutive cases. The ability of echocardiography to establish a complete and accurate diagnosis and a correct management plan was evaluated. Sequential segmental analysis of data from cardiac catheterisation and n...

Caudal regression syndrome (CRS) is characterized by a group of heterogeneous anomalies involving the distal spinal cord and vertebral column, genitourinary system, hind gut and limbs. The malformation may range from minor anomalies of spine and spinal cord to the extreme, the sirenomelia. Various authors pointed out an overlap of spectrum of anomalies in CRS and VACTERL (vertebral, anorectal, ...

Introduction: Since 1954, after the first surgical repair of tetralogy of Fallot (TOF), several innovations have occurred in cardiac surgery, especially in children. One stage complete repair of TOF is currently possible even in infancy; however, complications such as hypoxemia, arrhythmia, cardiac dysfunction, sudden death, and valvular disorders may happen. In this study, we evaluated the res...

Cardiac anomalies are the most frequent congenital malformations and it has been shown that prenatal diagnosis has a major impact on the prenatal and postnatal management of affected pregnancies. Technical improvements and highly skilled operators, have demonstrated that early echocardiography, at 11-14 weeks scan, is feasible and a significant proportion of cardiac lesions present with abnorma...

In the era of Multislice Computed Tomography (MSCT), few studies have been dedicated to the evaluation of coronary anomalies and variants. We aim to present, describe and assess the prevalence of congenital coronary variants and anomalies (CVA) in the MSCT coronary angiographic studies performed in our department. All the MSCT coronary angiographies performed in our department, between April 1,...

PURPOSE Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. METHODS A retrospective analysis was ...

We have described some of the cardiological findings in 66 patients with Williams-Beuren syndrome and analysed the two dimensional cross sectional echocardiograms in 61 of them in comparison with normal controls. Supravalvar aortic narrowing was shown in all patients examined echocardiographically and may be a useful diagnostic sign. We documented a 7.8% incidence of systemic hypertension, a 15...

anomalies of origin, course, and distribution of coronary arteries, including single coronary artery, are well known in patients with tetralogy of fallot. however, to the best of our knowledge, there is no published case report of pentalogy of fallot with a single coronary artery. herein, we introduce a 22-year-old female patient diagnosed via echocardiography and cardiac catheterization preope...